All of the latest news and updates from Genetic Alliance UK can be found below. This includes the release of our latest reports and findings, as well as pieces that our member organisations have requested that we share.
We also share stories, images and experiences from those living with genetic, rare and undiagnosed conditions. Individuals affected by these conditions are at the heart of everything that we do and we want to champion these communities by amplifying their voices, individually and collectively.
If you’d like to have your story included on our website then get in touch.
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New report on how to address structural and cultural barriers to PPIE in academic research
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Brody, Me & GDD: Laura Rutherford shares her experience of what it was like in the early days when she didn’t have any answers about her son’s development
We are delighted to share the fantastic news that health ministers across the UK have agreed to extend the UK Rare Diseases Framework by one year. This is a vital step and ensures continuity in rare conditions policy for our community. This extension means each nation can continue to deliver their Rare Diseases Action Plan, driving improvements in care for people with rare conditions and building on the foundations established over the last five years.
Our role in The LifeArc Translational Centres for Rare Disease
Celebrating Inclusive Research: Patient and Public Involvement and Engagement (PPIE) Award 2025 for Early Career Researchers
After a decade of unanswered questions, Janet finally discovered she has Laryngeal mucous membrane plasmacytosis – a condition so rare she can no longer eat and survives entirely on intravenous nutrition. Through career changes, adapting daily life, and finding new passions, she’s built a life beyond her diagnosis. This is Janet's story.
Genetic Alliance UK supported LifeArc to launch the Accelerating R&D (research and development) for rare disease in the UK report.
In 2020, Celine Lewis, a behavioural scientist who previously worked at Genetic Alliance UK, embarked on a project to look at the delivery of whole genome sequencing in the NHS (the Genomic Medicine Service, or GMS). The focus was on how well the GMS is working in the diagnosis of rare diseases in children in England. It examined how the new service was rolled out, how prepared healthcare professionals felt, communication practices, parents’ experiences, and psychological impacts. Here she explains some of the work she and her team conducted and the key findings.
We’re pleased to share Genetic Alliance UK's new policy report, 'Time to Decide: Learning from international approaches to newborn screening decision-making'
Rosie was born in April 2022, and for the first 16 weeks things her family lived in their "new family unit" bubble. Rosie's mum shares what happened next.
Bex is mum to 6-year-old Jackson, the youngest of three boys. Jackson has a genetic/neurological condition so rare they have yet to find a name for it. This means Jackson has complex medical, physical, and learning disabilities.
